JOURNAL OF FAMILIAL TUMORS
Online ISSN : 2189-6674
Print ISSN : 1346-1052
Presymptomatic diagnosis for Lynch syndrome without proband genetic information: a case report
Mizue Teramoto Yuko TakasuHazuki KashiwagiNoriko TeradaMotoki MatsuuraKentarou YamashitaKenji OkitaAki IshikawaTsuyoshi SaitoAkihiro Sakurai
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JOURNAL OPEN ACCESS

2018 Volume 18 Issue 1 Pages 1-7

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Abstract
Lynch syndrome is caused by germline mutations in the mismatch-repair genes, which increase the risk of certain cancers. The MSH2, MLH1, MSH6, and PMS2 genes are known as causative genes, and deletions of the epithelial cell adhesion molecule (EPCAM) gene located upstream from the MSH2 gene can also cause this syndrome. We report a client who was highly suspected of having Lynch syndrome from her family history and received a presymptomatic genetic testing without any proband genetic information because of no survivors with cancer in her family.
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© 2018 The Japanese Society for Familial Tumors
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